BMP5
bone morphogenetic protein 5
Summary
This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer, which plays a role in bone and cartilage development. Polymorphisms in this gene may be associated with osteoarthritis in human patients. This gene is differentially regulated in multiple human cancers. This gene encodes distinct protein isoforms that may be similarly proteolytically processed. [provided by RefSeq, Jul 2016]
Known Variants42 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs376923719 | 6:55,620,350 | C/T | — | uncertain significance |
| rs757210060 | 6:55,620,357 | C/T | — | uncertain significance |
| rs768786761 | 6:55,620,392 | C/G | — | uncertain significance |
| rs557833545 | 6:55,620,456 | C/T | — | uncertain significance |
| rs2481606690 | 6:55,623,815 | T/C | — | uncertain significance |
| rs756256577 | 6:55,623,840 | T/C | — | uncertain significance |
| rs184900087 | 6:55,623,887 | G/A | — | benign |
| rs141227178 | 6:55,625,291 | G/A | — | benign |
| rs2481611239 | 6:55,625,317 | C/T | — | uncertain significance |
| rs2481611244 | 6:55,625,318 | A/C | — | uncertain significance |
| rs374187646 | 6:55,625,328 | T/C | — | uncertain significance |
| rs746918830 | 6:55,638,898 | G/A | — | uncertain significance |
| rs1427214833 | 6:55,638,910 | T/C | — | uncertain significance |
| rs144630424 | 6:55,638,918 | T/C | — | uncertain significance |
| rs1012924212 | 6:55,638,956 | C/A | — | uncertain significance |
| rs367881870 | 6:55,638,961 | A/G | — | uncertain significance |
| rs80225326 | 6:55,638,980 | T/G | — | uncertain significance |
| rs2481644857 | 6:55,638,999 | T/C | — | uncertain significance |
| rs995450354 | 6:55,639,003 | T/C | — | uncertain significance |
| rs41271330 | 6:55,639,028 | G/A | synonymous variant | benign |
| rs2481690943 | 6:55,659,123 | A/C | — | uncertain significance |
| rs1206546742 | 6:55,659,138 | A/T | — | uncertain significance |
| rs1361619185 | 6:55,684,496 | T/C | — | uncertain significance |
| rs141418328 | 6:55,684,511 | A/G | — | benign |
| rs548500058 | 6:55,698,690 | A/G | — | — |
| rs921126 | 6:55,709,741 | C/T | intron variant | — |
| rs1470527 | 6:55,711,211 | G/A | intron variant | — |
| rs9475429 | 6:55,715,102 | T/A | intron variant | — |
| rs4715567 | 6:55,719,867 | G/T | — | — |
| rs9382564 | 6:55,738,513 | G/T | intron variant | — |
| rs2481899630 | 6:55,739,239 | A/G | — | uncertain significance |
| rs1238750301 | 6:55,739,240 | G/C | — | uncertain significance |
| rs755749791 | 6:55,739,269 | G/A | — | uncertain significance |
| rs148766592 | 6:55,739,284 | A/T | — | benign |
| rs148184427 | 6:55,739,290 | C/T | — | uncertain significance |
| rs35124644 | 6:55,739,302 | T/C | — | benign |
| rs778186001 | 6:55,739,311 | G/T | — | uncertain significance |
| rs150791548 | 6:55,739,361 | T/C | — | likely benign |
| rs763130839 | 6:55,739,395 | T/C | — | likely benign |
| rs766771437 | 6:55,739,396 | T/C | — | uncertain significance |
| rs3734444 | 6:55,739,553 | A/G | — | benign |
| rs775965702 | 6:55,739,560 | T/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.